Table 3

Relation between presence of UCEs and gene content

Size (Mb)

No. Gene annotations (RefSeq)

Enrichment ratio a

No. Gene annotations (CCDS)

Enrichment ratio a


Genome

3107

33,244

19,841

Pathogenic CNVs with UCEs

56.591

488

0.81

311

0.86

Pathogenic CNVs without UCEs

26.384

781

2.76

477

2.83


When comparing the observed/expected ratio of gene content in pathogenic imbalances attending to the presence or not of ultraconserved elements, it results evident that only pathogenic CNVs without UCEs show an excess of gene content. Consequently we can reject that the enrichment of UCEs in clinically relevant CNVs are due to a higher gene content.

(a) The ratio between observed and expected elements was computed as specified in table 2.

Martínez et al. BMC Medical Genomics 2010 3:54   doi:10.1186/1755-8794-3-54

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